Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.F126delFs
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LDLR

NM_000527.5:p.F126delFs

Associated Papers

Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia.

Yazıcı H et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

Validation of the 2022 Clinical Diagnostic Criteria of Familial Hypercholesterolemia in Japan.

Tada H et al.

Journal of Atherosclerosis and Thrombosis, 2024

Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.

Ibrahim S et al.

Circulation. Genomic and Precision Medicine, 2023

37675602 (PubMed )
Supplement: hcg-16-462-s001.pdf

Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.

Tada H et al.

Frontiers in Genetics, 2022

35480308 (PubMed )
Supplement: Presentation1.pdf

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Sturm AC et al.

Jama Cardiology, 2021

34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf
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